Monday, February 24, 2014

The Milwaukee Journal Sentinel's investigative report about newborn screening timeliness has won the prestigious Selden Ring award for the top piece of investigative reporting for the year! Although I'm definitely biased because our family was featured in the story, I think this series was profoundly important and well-deserving of all accolades that it receives. I spent nearly six months talking to the reporters and was able to witness first-hand how much work went into telling this story. The video on their article from last week about the win, also describes the reporting process.

I've been sitting on this blog post for awhile, almost afraid to post it because I don't want to jinx the unqualified success of LB's transition to the big boy bed. Now that it has been nearly 3 months and he's still sleeping through the night -- yes you read that right -- HE IS SLEEPING THROUGH THE NIGHT!!!! -- I thought it would be safe to post this.

Just two nights before Thanksgiving, LB figured out how to climb out of his crib. He was 20 months old at the time, a few months younger than when his big brother accomplished this feat, but in our house, once the baby can climb out of the crib, the big boy bed becomes a necessity. I'd rather throw some pillows on the floor next to the twin bed than have any crib-climbing related injuries on my conscience.

We weren't exactly prepared for this to happen so quickly, but we decided to roll with it. Thankfully, we already had the twin bed and mattress he would be using. We just needed to move that into his room, do some rearranging and get him a new dresser. The process started first thing in the morning.

LB was pretty excited about the whole thing, especially the disassembly of his crib...

He helped us carry the crib pieces out of his room.

He cuddled up with his big brother for a little snuggling on his new mattress.

And he was the first one to climb into his bed once the new sheets were on (I wanted to decorate his room in a sports theme and I hit the jackpot when I got the very last set of twin-sized flannel sports sheets at Kohl's).

He immediately snuggled onto his pillow and smiled.

That night, we put him to bed and he did great. He was anxious to sleep in his new bed and he slept all night long. Didn't wake up once and didn't get out of bed at all. I woke up refreshed and rested and only a little bit nervous about how long he had slept (11 hours, which is totally within his 10-12 hour limit). He has proceeded to sleep through the night just about every night since.

Sometimes he'll stir at night and yell out for me. I'll go in and untangle him from his sheets or re-tuck him in and he'll drift right back to sleep. Usually, he says "thank you, Mommy" when I do. Most nights, he just sleeps, though. It's incredible.

We've waited nearly two years for this to happen and now that it has, I feel like we've reached another milestone in our MCADD journey. It is nice to know that he's getting a good night of rest because I know his body needs it. It's nice to be able to put him to sleep and not worry about sleeping through a feeding alarm because I'm so tired that my body won't listen to them anymore. The whole family is getting rest and we are one happy household now that we are meeting our sleep quotient. We're even making up for the lost sleep of the last two years. Hooray!!

Wednesday, February 19, 2014

I have always been profoundly grateful for what newborn screening has given our family (the ability to know our son, the ability to see him grow up healthy and the information to keep him safe, among other things). In many ways, I feel like I owe this enormous debt of gratitude back to the universe for the gift that LB has been to our family. Whenever I am presented with an opportunity to help raise awareness about newborn screening or about MCADD, I always say yes. It is my way of saying thank you to everyone throughout the years and from across the world who have brought newborn screening to the level it exists at today.

Tonight was yet another joyful payment on that debt of gratitude. I was given the opportunity to talk to a public health genetics class at the University of Colorado. It is a graduate level class which has been looking at newborn screening from a systems perspective and I was asked to provide a family perspective on screening -- what I knew about screening before, what emotions I had when we were told our son had an abnormal screen, finding out his diagnosis, learning to live with MCADD and how it has affected our lives. The quick answers to these questions are as follows:

I knew nothing about newborn screening until we got the phone call saying our youngest son's screening was abnormal. I didn't even realize our older son had been screened until the lab looked up his results from 2 years earlier and told us he was ok.

I covered just about every emotion in the book in the first 24 hours after getting that phone call. I was confused, scared, sad and grateful all at the same time. I eventually landed on being grateful pretty much all the time.

Learning he had MCADD was not what we wanted to hear, but we have accepted that this is who he is and have embraced the opportunity to care for him because we are cognizant of the fact that families didn't used to be so lucky. The information we gained through newborn screening saves his life each and every day because we know he needs to eat frequently and we have to be extra cautious when he is sick.

Living with MCADD was pretty challenging in LB's first year mainly because everything is a little more challenging when you're running on so little sleep. As he grew and required less frequent feedings and as he has started sleeping through the night, we're finding that our ability to cope with common stressors has greatly improved. Sleep does a weary mommy's body good!

MCADD has affected our lives in a mainly positive way. Sure, we'd rather he didn't have it, but we can't change the fact that he does. All we can do is follow his doctor's guidelines (which we've found aren't all that hard), love him like crazy and appreciate each and every day we get to spend with him.

The students in the class were wonderful. They asked great questions and I left feeling grateful for the opportunity to give them a glimpse of what families experience in newborn screening. I hope that they will remember my presentation when they are contributing to and/or managing screening programs in the future. In addition, I hope that they will continue to raise the bar for improving and expanding not only screening programs, but also the emotional support that these programs should provide to families traveling this road.

Sunday, February 16, 2014

As we were getting ready for baths tonight, LB was playing in the bathroom sink with Thomas the Train. He was driving Thomas around the lip of the sink and saying "Hello Thomas! Go Thomas!". Then the train would slide into the sink and he would say "Uh-oh! Thomas in hole! Help Thomas!" Then, his toothbrush would appear to scoop him out of the sink and he would say "Toothbrush SAVE Thomas! Yay toothbrush!"

It was incredibly cute. The same scene also played out with the bottle of handsoap saving Thomas - "Soap SAVE Thomas! Yay Soap!"

Proof that kids don't really need that many toys in order to have fun. It's pretty cool how he's already starting to use his imagination.

MCADD Children's Book

Prenatal and Newborn Screening Timeline

Follow by Email

About Our MCADD Journey

We didn't know much about newborn screening and we knew even less about metabolic disorders until our youngest son, "LB", was diagnosed with MCADD when he was three days old. We have a wonderful pediatrician and incredible metabolic specialists at the Colorado Children's Hospital who have educated us about his condition and taught us how to keep him safe. Keeping track of LB's food intake has become a natural part of our daily routine, but he is otherwise a completely normal and happy kid.

I started this blog to reassure other Moms (and Dads and Grandparents, Aunts, Uncles, Cousins, Friends, Neighbors, etc.) that MCADD isn't as scary as it may seem at first and to provide some insight into this condition as we learn more about it over the course of our son's life.

About Me

Nauseatingly optimistic and way too busy for my own good, I am hopelessly addicted to good books, soft blankets and warm cups of cocoa. I blog to tell my own story and keep up with the stories of my pals who are spread out across the world doing wonderful things. I am happily married to the man of my dreams and we have TWO handsome little boys along with a houseful of pets who provide endless hours of entertainment.

I have a Bachelor's degree in Communications and a Master's degree in Public Policy. Professionally, I am an alternative fuels strategist/junkie/advocate, but newborn screening advocacy is a personal 24/7 mission because I'll never be able to fully express my gratitude for how newborn screening saved my baby's life.